Living with Autosomal dominant limb-girdle muscular dystrophy type 1G
A mild inherited muscle condition with weakness around the hips and shoulders and stiff fingers and toes, starting in the teens or adulthood.
Understanding Autosomal dominant limb-girdle muscular dystrophy type 1G
It causes mild, slowly worsening weakness of the muscles around the hips and shoulders. It also causes a gradual, permanent loss of finger and toe bending without fixed contractures. Creatine kinase, a muscle enzyme, can be normal or highly raised.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Mild weakness around the hips and shoulders
- Slowly worsening weakness
- Limited bending of fingers and toes
- Raised creatine kinase on blood tests
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in HNRNPDL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association and The Speak Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association, The Speak Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the HNRNPDL gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant limb girdle muscular dystrophy type 1g; autosomal dominant limb-girdle muscular dystrophy caused by mutation in hnrnpdl; hnrnpdl autosomal dominant limb-girdle muscular dystrophy; hnrnpdl-related lgmd d3; hnrnpdl-related limb-girdle muscular dystrophy d3; lgmd type 1g
Patient organizations
- Muscular Dystrophy AssociationAutosomal dominant limb-girdle muscular dystrophy type 1G · United States
- The Speak FoundationAutosomal dominant limb-girdle muscular dystrophy type 1G · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant limb-girdle muscular dystrophy type 1G.
Explore research for Autosomal dominant limb-girdle muscular dystrophy type 1G
Explore actively recruiting Autosomal dominant limb-girdle muscular dystrophy type 1G studies with HealthSpark.
Find actively recruiting studies for Autosomal dominant limb-girdle muscular dystrophy type 1G with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal dominant limb-girdle muscular dystrophy type 1G studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Autosomal dominant limb-girdle muscular dystrophy type 1G
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Autosomal dominant limb-girdle muscular dystrophy type 1G experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.